ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg) (rs121918735)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000059553 SCV000221859 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
UniProtKB/Swiss-Prot RCV000059553 SCV000091085 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678837 SCV000805026 pathogenic Seizures 2017-08-14 no assertion criteria provided clinical testing

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